Unique variants in the MAN2A2 gene

Information The variants shown are described using the NM_006122.2 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 - c.338C>T r.(?) p.(Pro113Leu) - VUS g.91448686C>T - MAN2A2(NM_006122.4):c.338C>T (p.(Pro113Leu)) - MAN2A2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.405G>A r.(?) p.(=) - likely benign g.91448823G>A - MAN2A2(NM_006122.4):c.405G>A (p.(Ser135=)) - MAN2A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.848G>A r.(?) p.(Arg283His) - VUS g.91449982G>A - MAN2A2(NM_006122.4):c.848G>A (p.(Arg283His)) - MAN2A2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1218A>T r.(?) p.(Gln406His) - VUS g.91452578A>T g.90909348A>T MAN2A2(NM_006122.2):c.1218A>T (p.(Gln406His)) - MAN2A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1394C>G r.(?) p.(Ser465Cys) - VUS g.91453339C>G - MAN2A2(NM_006122.4):c.1394C>G (p.(Ser465Cys)) - MAN2A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1422G>A r.(?) p.(=) - likely benign g.91453367G>A - MAN2A2(NM_006122.4):c.1422G>A (p.(Arg474=)) - MAN2A2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1944-6G>A r.(=) p.(=) - likely benign g.91454609G>A - MAN2A2(NM_006122.4):c.1944-6G>A - MAN2A2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2021G>T r.(?) p.(Arg674Leu) - VUS g.91454692G>T g.90911462G>T MAN2A2(NM_006122.2):c.2021G>T (p.(Arg674Leu)) - MAN2A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2039G>A r.(?) p.(Gly680Asp) - VUS g.91454710G>A - MAN2A2(NM_001320977.1):c.2039G>A (p.G680D) - MAN2A2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2203C>T r.(?) p.(Arg735Cys) - VUS g.91455366C>T - MAN2A2(NM_006122.4):c.2203C>T (p.(Arg735Cys)) - MAN2A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2302C>T r.(?) p.(Arg768Cys) - VUS g.91455465C>T - MAN2A2(NM_006122.4):c.2302C>T (p.(Arg768Cys)) - MAN2A2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2515C>G r.(?) p.(Pro839Ala) - VUS g.91456152C>G - MAN2A2(NM_006122.4):c.2515C>G (p.(Pro839Ala)) - MAN2A2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2583A>G r.(?) p.(=) - likely benign g.91456220A>G - MAN2A2(NM_006122.4):c.2583A>G (p.(Pro861=)) - MAN2A2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2584+3G>C r.spl? p.? - likely benign g.91456224G>C - MAN2A2(NM_006122.4):c.2584+3G>C - MAN2A2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2718+5C>T r.spl? p.? - likely benign g.91456641C>T - MAN2A2(NM_006122.4):c.2718+5C>T - MAN2A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2719-5C>G r.spl? p.? - likely benign g.91456839C>G - MAN2A2(NM_006122.4):c.2719-5C>G - MAN2A2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2860+2T>A r.spl? p.? - VUS g.91456987T>A - MAN2A2(NM_001320977.1):c.2860+2T>A - MAN2A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3157del r.(?) p.(His1053ThrfsTer49) - VUS g.91461586del g.90918356del MAN2A2(NM_006122.2):c.3156del (p.?) - MAN2A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3260C>A r.(?) p.(Ala1087Asp) - VUS g.91461945C>A - MAN2A2(NM_006122.4):c.3260C>A (p.(Ala1087Asp)) - MAN2A2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3263A>C r.(?) p.(Lys1088Thr) - VUS g.91461948A>C - MAN2A2(NM_006122.2):c.3263A>C (p.(Lys1088Thr)) - MAN2A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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